Researchers provided a long-awaited and rare genetic diagnosis in a child with Lennox-Gastaut syndrome, a type of ...

"We were shocked to discover that one of three females we were studying had 100% skewed X chromosome inactivation. So, we proceeded to check in large databases and found more such females.

Patients with Klinefelter and triple X syndromes show an increased prevalence of SLE and Sjögren disease, likely due to the synergistic interaction of the extra X chromosomes.

The U.S. Food and Drug Administration said on Tuesday it has approved SpringWorks Therapeutics' drug to treat a type of rare ...

Created with Sketch. Also known as XXY syndrome, this rare condition occurs when male babies are born with an extra X chromosome. These individuals tend to have smaller genitalia, extreme shyness ...

In a nutshell Female cells randomly use either the maternal or paternal X chromosome—this study shows that relying more ...

The Food and Drug Administration (FDA) approved a new drug to treat a disorder causing the growth of noncancerous tumors on nerves throughout the body. The federal agency said on Tuesday it ...

Mutations in the X chromosome often cause intellectual disability, and women born with just one X chromosome (a diagnosis known as Turner Syndrome), can have cognitive impairments. X chromosomes, some ...

Lee and her colleagues have theorized that in cases where genetic disorders are the result of a mutation on the X chromosome, the inactivated X chromosome could serve as a "backup copy," and that ...

Mutations in the X chromosome often cause intellectual disability, and women born with just one X chromosome (a diagnosis known as Turner Syndrome), can have cognitive impairments. X chromosomes, some ...

Professor B Franco, Telethon Institute of Genetics and Medicine (TIGEM), Via Pietro Castellino 111, 80131 Naples, Italy; franco{at}tigem.it If you wish to reuse any ...